Strain Name:
STOCK Sox2tm4Lpev/Mmnc
Stock Number:
037151-UNC
Citation ID:
RRID:MMRRC_037151-UNC
Other Names:
Sox2 IR,

Strain Information

Sox2tm4Lpev
Name: SRY (sex determining region Y)-box 2; targeted mutation 4, Larysa H Pevny
Synonyms: Sox2IR
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knockout
Sox2
Name: SRY (sex determining region Y)-box 2
Synonyms: Sox-2, lcc, ysb
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Knockout
NCBI: 20674
Homologene: 68298
Genetic Alterations
This construct was targeted via homologous recombination into the endogenous Sox2 locus. The 3' UTR of Sox2 mRNA (EcoRV–NheI fragment) was replaced with IRESdsRed2, and loxP-flanked PGK–Neo cassette. Sox2 is a single exon gene, so no intron was lost in the design of this construct.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    CCE/EK.CCE derived from 129S8/SvEv-Gpi1c
    Phenotype

    Homozygous: No formal analysis has been performed on homozygous carriers given that, in order to more accurately model human SOX2 haploinsufficiency, the Sox2 IR allele was generally expressed in conjunction with a Sox2 GFP null allele rather than in a homozygous environment. Based on our knowledge of the dosage of SOX2 protein that would be predicted to be expressed in Sox2 IR/IR mice (i.e., ≈40-60% WT levels), these mice would likely exhibit variable, mild ocular phenotypes, including coloboma, as well as reduced fertility; however, this is informed speculation only.

    Heterozygous: No observable phenotype.

    Mammalian Phenotype Terms
    Allelic Composition: Sox2tm4Lpev/Sox2tm4Lpev (Genetic Background: involves: 129S/SvEv )

    Allelic Composition: Sox2tm4Lpev/Sox2+ (Genetic Background: involves: 129S/SvEv )

    Allelic Composition: Sox2tm1Lpev/Sox2tm4Lpev (Genetic Background: involves: 129S/SvEv )

    MeSH Terms
    • Alleles
    • Animals
    • Anophthalmos/genetics
    • Cell Differentiation
    • Cell Proliferation
    • DNA-Binding Proteins/biosynthesis
    • DNA-Binding Proteins/genetics
    • DNA-Binding Proteins/physiology
    • Gene Dosage
    • Mice
    • Mice, Knockout
    • Microphthalmos/genetics
    • Mutation
    • Neurons/metabolism
    • Neurons/physiology
    • Receptor, Notch1/metabolism
    • Retina/abnormalities
    • Retina/embryology
    • Retina/metabolism
    • SOXB1 Transcription Factors
    • Signal Transduction
    • Stem Cells/metabolism
    • Stem Cells/physiology
    • Trans-Activators/biosynthesis
    • Trans-Activators/genetics
    • Trans-Activators/physiology
    • Diencephalon/abnormalities
    • Diencephalon/pathology
    • Disease Models, Animal
    • Embryo, Mammalian/abnormalities
    • Embryo, Mammalian/pathology
    • Eye Abnormalities/genetics
    • Haploinsufficiency
    • Humans
    • Hypothalamus/abnormalities
    • Hypothalamus/pathology
    • Mice, Transgenic
    • Microscopy, Electron, Scanning
    • Organ Specificity
    • SOXB1 Transcription Factors/deficiency
    • SOXB1 Transcription Factors/genetics
    • Cleft Palate/genetics
    • Genotype
    Strain Development
    CCE/EK.CCE ES cells derived from 129S/SvEv-Gpi1c were injected into C57BL/6J blastocysts producing male chimeras which were then bred to C57BL/6J females. Subsequently, the mice were maintained for 15 generations on C57BL/6J, after which the allele was continuously outcrossed to CD1 females for 11 generations.
    Suggested Control Mice
    Wild-type littermates
    MMRRC Genetic QC Summary
    The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@med.unc.edu. Older strains may not have this information.
    • Developmental Biology
    • Models for Human Disease
    • Neurobiology
    • Sensorineural
    Donor
    Allele made by Larysa Pevny, Ph.D., and Ellen Weiss, Ph.D., and submitted by Lee Langer, Ph.D., University of North Carolina at Chapel Hill.
    Primary Reference

    Taranova OV, Magness ST, Fagan BM, Wu Y, Surzenko N, Hutton SR, Pevny LH. SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Genes Dev. 2006 May 1;20(9):1187-202. (Medline PMID: 16651659)

    Langer L., Taranova O, Sulik K, Pevny L., SOX2 hypomorphism disrupts development of the prechordal floor and optic cup. Mech Dev. 2012 Mar-Jun;129(1-4):1-12 (Medline PMID: 22522080)

    Langer L, Sulik K, Pevny L., Cleft Palate in a Mouse Model of SOX2 Haploinsufficiency. Cleft Palate Craniofac J. 2014 Jan;51(1):110-4. (Medline PMID: 23638914)

    Colony and Husbandry Information

    Colony Surveillance Program and Current Health Reports

    Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc_health@med.unc.edu.
    Coat Color
    White
    MMRRC Breeding System
    Outcross to non-inbred (hybrid or outbred)
    Breeding Scheme(s)
    • Crl:CD1 (ICR) female x Heterozygous male
      Generation
      N11+
      Overall Breeding Performance
      Good
      Viability and Fertility: Female Male Comments
      Homozygotes are viable: Yes Yes
      Homozygotes are fertile: Yes Yes
      Heterozygotes are fertile: Yes Yes
      Age Reproductive Decline: 6 months Undetermined
      Average litter size
      N15+
      Recommended wean age
      3 weeks

      Order Request Information

      Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

      Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

      Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

      Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

      Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
      MMRRC Item # Description Distribution Fee / Unit (US $)
      *Shipping & Handling not included*
      Units Notes
      037151-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / $4,837.00
      Non-Profit / For-Profit
      Litter Recovered litter4; additional fees for any special requests.
      Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

      1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

      2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

      3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

      4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

      To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.